Clinical history
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Transcript of Clinical history
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Clinical history
• 6 month old Native American female• Admitted with “near skeletonization” appearance.• Birth weight 7 lbs. (50th percentile)• Admission weight 11lbs. (>3rd percentile)• Glucose 70; trace acetone• Albumin 2.4• History of recent diarrhea of unknown severity.• Serum K+ - 1.8; BUN -49; Na+ - 128• Estimated to be volume depleted (?10%)• Given IV fluids but died after 2 days in hospital• Blood ammonia -51 (elevated)
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Autopsy findings:
• Anasarca• Plumonary edema• Thymic atrophy• Marked fatty liver metamorphosis• Pancreatic atrophy with ductile ectasia• Lymphoid tissue atrophy
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Renal findings:
• Gross and microscopic appearances with a fat stain (oil red O).
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Are they simply showing the secondary effects of starvation;or is it something else entirely?Reyes syndrome? Fanconi syndrome?Metabolic/genetic disease, etc.?
Would appreciate any thoughts on this case from colleagues.
Thank you.
Mary Ann Sens, MD, PhDProfessor and Chair of PathologyUNDSMHS Pathology